lethal congenital contracture syndrome 3
ORPHA: 137783
Overview
lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:137783lethal congenital contracture syndrome 3
| Orphanet | ORPHA:137783 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO